The EPIRARE project

research materialPatient registries have considerable potential to help improve understanding of rare diseases and provide the knowledge base necessary to support scientific research and development of effective treatments. Today, even though many rare disease registries exist, the fact that they all operate in different ways, hinders the effective systematic data collection and sharing necessary for a positive effect on the health of patients.


This is why EURORDIS has decided to embark on a new and exciting project to build consensus and synergies for the EU registration of rare disease patients. EPIRARE is co-funded by the European Commission within the EU Program of Community Action in the field of Public Health and is coordinated by the Istituto Superiore di Sanità at the Italian Ministry of Health.


Its general objectives are:

  • To analyse the present situation by conducting a survey targeting existing registries and to identify good practices
  • To build consensus and synergies to address the regulatory, ethical and technical issues associated with the registration of rare disease patients in Europe
  • To elaborate possible policy scenarios for EU policies on rare disease patient registries
  • To prepare the feasibility of a future EU rare disease registry platform


networkWithin this latter objective, the project will prepare the ground for the possible future creation of an EU platform for the collection of data on rare disease patients. It is expected that a common reference framework, addressing scope, governance and long-term sustainability at the EU level, will avoid wasteful fragmentation and duplication of time and resources, and facilitate the setting up of more patient registries, especially for the rarest and most fragmented diseases throughout Europe.


In order to build the ‘gold standard’ of rare disease registries, the first step will be to survey existing rare disease registries to have an overall view of what has been done and what gaps remain. The survey will address specific characteristics of the registry, such as scope and aims, legal basis for collection of data, measures for data protection, organisational and financial support, number of patients registered, unmet needs, data collected, means of collection, data sources and quality of data, as well as ethical standards. The general survey will target the largest possible number of research, academic and industry registries and will be conducted in 2012. A parallel survey will be conducted by EURORDIS in order to specifically identify patient registry initiatives and collect the experience and expectations of patient organisations in this field.


EURORDIS is one of 11 partners and the second largest after the project leader. EURORDIS is involved in most aspects of the project, and is specifically responsible for defining possible policy scenarios on the scope, common data set, governance and sustainability of rare disease patient registration. “This is an essential prerequisite to define national, European and international strategy and concrete actions on patient registries” explains Yann Le Cam, Chief Executive Officer of EURORDIS. “It is expected that the project will provide the European Commission with robust elements and consensus amongst stakeholders to define the future policy for the EU registration of rare disease patients. This policy may include drafting a legislative proposal to overcome the current hurdles. Even if the regulation is not adopted in the near future the project will at least provide an agreed minimum common data set and mechanism for inter-operability, which national authorities may take into account when planning or implementing their national strategies on rare diseases, in order to have their registration systems ready for communication with the EU platform. These efforts are also conducted within the framework of the newly established International Rare Disease Research Consortium.”


Patient involvement in the field of registries is particularly important because of their roles in monitoring and recruitment. “Patients will be more likely to agree to being registered if they are contacted by other patients and if they are assured that the data they provide will be used properly and that the monitoring system includes patient representatives,” argues Lut de Baere, Chair of, the Belgian national alliance for rare disease patients. “We expect that the EPIRARE project will acknowledge the importance of involving patients in the setting up and management of registries by adopting recommendations which will officially organise them.”


“Registers are managed by universities, industry and sometimes public administrations but they ultimately belong to the patients,” argues Dr. Monica Ensini, EURORDIS Registry Project Manager. “Therefore it is crucial and necessary to involve them actively in this process”.


If you are working on a rare disease registry or if you have something to share about the subject, you can still join the EPIRARE Network. 


More information:

  • Events: EUCERD/EMA Workshop: Towards a public–partnership for registries in the field of rare diseases, Oct 4, 2011 London & Second EPIRARE Meeting, 22-23 May 2012, Brussels
  • View presentations of the Registries Workshop at EURORDIS Membership Meeting, Amsterdam, 2011
  • View video of Prof Anil Mehta describe the history of CF EUROPE’s registry at Rare Disease Day 2011 European Symposium


This article was first published in the October 2011 issue of the EURORDIS newsletter

Author: Paloma Tejada
Photo credits:  © EURORDIS/Epirare, Inserm/Patrice Latron

Page created: 27/09/2011
Page last updated: 24/02/2020
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases